Canonical Allele Identifier: CA226413

Gene:

Linked Data

• ClinVar Variation Id: 98781
• ClinVar RCV Id: RCV000085101
• dbSNP Id: rs281865323
• MyVariant Identifiers: chrX:g.38128004_38128005insT (hg19) ; chrX:g.38268751_38268752insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38268751_38268752insT , CM000685.2:g.38268751_38268752insT	GRCh38
NC_000023.10:g.38128004_38128005insT , CM000685.1:g.38128004_38128005insT	GRCh37
NC_000023.9:g.38012948_38012949insT	NCBI36
NG_009553.1:g.63784_63785insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465127.1:c.172-397370_172-397369insT	ENSP00000417050.1:n.172-397370_172-397369insT